Tay-Sachs Disease

Tay Sachs disease is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. Discover the latest research on Tay-Sachs disease here.

March 21, 2020
Open Access

Identifying Sex of Neonate Turtles with Temperature-dependent Sex Determination via Small Blood Samples

Scientific Reports
Boris TezakJeanette Wyneken
June 20, 2020
Open Access

Gemmobacter serpentinus sp. nov., isolated from conserved forages

International Journal of Systematic and Evolutionary Microbiology
Kahao LimJeongdae Im
April 8, 2020
Open Access

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

María Alejandra Puentes-TellezCarlos J Alméciga-Díaz
July 29, 2020

Magnetic and electronic properties of 2D TiX3 (X = F, Cl, Br and I)

Physical Chemistry Chemical Physics : PCCP
Jiazhong GengHui Pan
March 18, 2020
Open Access

Recent advances on the estimation of the thermal reaction norm for sex ratios

F Alberto Abreu-GroboisMarc Girondot
July 29, 2020
Open Access

Influence of the second layer on geometry and spectral properties of doped two-dimensional hexagonal boron nitride

Journal of Molecular Modeling
Michał ChojeckiTatiana Korona
July 20, 2020
Open Access

An information-theoretic approach for measuring the distance of organ tissue samples using their transcriptomic signatures

Dimitris V ManatakisElias S Manolakos
June 27, 2020

A Colorimetric Assay to Enable High-Throughput Identification of Biofilm Exopolysaccharide-Hydrolyzing Enzymes

Chemistry : a European Journal
Shaochi WangMyles B Poulin
April 18, 2020
Open Access

Influence of Dominance and Drift on Lethal Mutations in Human Populations

Frontiers in Genetics
D Waxman, A D J Overall
May 30, 2020

Dissection of the HCMV-Specific Antibody Responses in Lung-Transplant Recipients

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation
H VietzenE Puchhammer-Stöckl
April 16, 2020
Open Access

Turtle Insights into the Evolution of the Reptilian Karyotype and the Genomic Architecture of Sex Determination

Basanta Bista, Nicole Valenzuela
August 10, 2020
Comment / Editorial

Is rapid exome sequencing standard of care in the NICU and PICU?

The Journal of Pediatrics
Stephen F Kingsmore
June 28, 2020

Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice

Molecular Therapy : the Journal of the American Society of Gene Therapy
Hannah G LaheyMiguel Sena-Esteves
July 22, 2020
Open Access

Ganglioside GM2: a potential biomarker for cholangiocarcinoma

The Journal of International Medical Research
Krajang TalabninBanchob Sripa

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